Article
Expanding the phenotype of TAB2 variants and literature review.
American journal of medical genetics. Part A - 1 Nov 2022
Woods Emily, Marson Imogen, Coci Emanuele, Spiller Michael, Kumar Ajith, Brady Angela, Homfray Tessa, Fisher Richard, Turnpenny Peter, Rankin Julia, Kanani Farah, Platzer Konrad, Ververi Athina, Emmanouilidou Eleftheria, Bourboun Nourxan, Giannakoulas George, Balasubramanian Meena
Abstract excerpt
TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existing literature describes congenital heart disease as a common recognized phenotype of TAB2 gene variants, with evidence of a distinct syndromic phenotype also existing beyond this. Here we describe 14 newly identified individuals with nine novel, pathogenic TAB2 variants. The majority of individuals were identified...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.